Ultrasound (US) has become a useful, bedside, noninvasive imaging technique in diagnosing pulmonary diseases, particularly in Neonatology, due to its non-invasive nature, lack of ionizing radiation, and high-quality imaging. This study explores current methodologies, applications, and benefits of thoracic US in neonatal care, highlighting its application in assessing pleural morphology, pulmonary consolidations, and diaphragmatic function. Key ultrasound findings, such as A-lines, B-lines, and the pleural sliding sign, are instrumental in diagnosing various lung conditions, including pneumothorax and respiratory distress syndrome. The present review emphasizes the growing importance of lung ultrasound (LUS) in predicting neonatal intensive care needs, reducing reliance on X-rays, and improving the early diagnosis of conditions like transient tachypnea of the newborn. The use of ultrasound scoring systems enhances diagnostic accuracy, making thoracic ultrasound a valuable addition to neonatal care protocols for real-time, radiation-free assessment from birth.

Tuberculosis (TB) remains a significant global health challenge, particularly within pediatric populations. This article reports the case of a 7-year-old female patient admitted with massive fibrinous pleural effusion secondary to TB, highlighting the key role of ultrasound in disease monitoring and therapeutic guidance. The patient presented with fever, cough, and abdominal pain. Imaging confirmed the presence of pleural effusion and lymphadenopathy. Serial ultrasound assessments demonstrated superior sensitivity compared to CT in characterizing the pleural effusion, leading to the initiation of intrapleural urokinase therapy under ultrasound guidance. The treatment resulted in the successful dissolution of fibrin septations and marked clinical improvement. The discussion explores the diagnostic advantages of ultrasound in pediatric TB, its effectiveness in monitoring therapeutic response, and the utility of localized fibrinolytic therapy. This case highlights the value of ultrasound as a cost-effective, noninvasive, radiation-free tool in the management of pediatric TB, advocating for its increased integration into routine pediatric care.

Micro- and nanoplastics (MNPs) are emerging environmental contaminants with increasing evidence of bioaccumulation in human tissues and potential toxicological effects. While extensive studies in the literature have investigated MNP exposure and health risks in adult populations, data specific to pediatric age remain scarce and fragmented. This narrative review represents the first integrated synthesis of current evidence on MNP exposure during early life, including the critical period of the first 1000 days, examining routes of absorption (oral, inhalational, dermal, and iatrogenic), biological distribution, and organ-specific effects in infants and children. Special attention is given to the presence of MNPs in pediatric lungs, thyroid, and intestinal microbiota, as well as to emerging non-invasive biomarkers for exposure assessment. The developing physiology of children, characterized by immature detoxification systems, critical windows of vulnerability, and prolonged life-course exposure, amplifies concern for long-term health consequences, including endocrine disruption, immune dysregulation, and neurodevelopmental impairment. This work fills a critical knowledge gap by consolidating pediatric data into a single comprehensive resource, and it is intended to serve both as a reference point for clinicians and researchers and a catalyst for future studies aimed at safeguarding child health in an increasingly plastic-contaminated world.

Hereditary neuropathy with liability to pressure palsies (HNPP) is a genetic disorder characterized by recurrent focal neuropathies typically occurring at sites of nerve entrapment or compression. It is classically described as a painless condition; however, pain is frequently reported. Due to its rarity and variable clinical presentation, HNPP is often underdiagnosed or initially misdiagnosed. We report the case of a 14-year-old girl who presented with sudden-onset arm weakness and pain following physical activity. The clinical presentation initially raised suspicion for a hereditary demyelinating neuropathy. Although there was no known family history, the patient’s age and the persistence of symptoms supported the hypothesis of a genetic etiology. Neurophysiological studies were consistent with HNPP, which was subsequently confirmed by genetic testing. The primary aim of this report is to emphasize the importance of recognizing the early manifestations of HNPP—including pain, a symptom often underestimated or overlooked—in order to enable prompt diagnosis, reduce unnecessary diagnostic delays, and ensure timely initiation of appropriate genetic counseling. This case supports the notion that pain may represent an early feature of HNPP and should not lead clinicians away from considering this diagnosis.

Background: Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome, is a rare genetic disorder, caused by mutations in the ATRX gene. Clinical manifestations include typical facial dysmorphisms, mild-to-severe intellectual disability, hypotonia, genital anomalies, significant gastrointestinal (GI) complications, such as abdominal distension, chronic constipation, feeding difficulties, gastroesophageal reflux, and mild-to-moderate anemia secondary to alpha-thalassemia.Case presentation: We report a patient with ATR-X syndrome suffering from gastrointestinal dysmotility and highlight the beneficial effects of pyridostigmine. Knowledge about the role and appropriate dosage of pyridostigmine in GI motility disorders is limited. To date, only nine pediatric cases involving pyridostigmine for GI dysmotility have been reported.Conclusions: Considering current understanding about the treatment of gastrointestinal complications in patients with genetic syndromes, this case provides new insights into management of these complex clinical presentations.

Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the association of HMO with malignancies remains undefined. Only two cases have been reported to date. We report a third patient with HMO and leukemia. New research suggests that EXT1 and EXT2 genes may influence leukemogenesis through several mechanisms, including protein–protein interactions with leukemia‐associated genes and modulation by specific microRNAs (miRNAs). Dysregulation of heparan sulfate biosynthesis, a pathway involving exostosin proteins, may disrupt the bone marrow microenvironment, impacting hematopoietic cell growth and differentiation.